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250            PART 4  ■  Erythrocyte Disorders




                        m                            x m

                               m                 m  m  .                                                                                                                     m

                    C               q                                                                                                        . I                ,                              m            m

                                      ,                     ,                                          ,                                          m                            m

                         m                                       .  M                          m                                                                    . T                                              -

                                                                  m              mm                   -                             x                      m  ,                                                      -

                                                                                             m                                                                      m   .

                      m         . A

                                              m               . C                             mm  -                        Laboratory Manifestations

                                                                                      ,                                    T   m  j                                                                                 ,

                 %                                                     m        .                                                                                               m         mm

                                                                                                                              m     m . T                                                 DBA
               Diam ond-Blackfan Anem ia


               Diamond-Blackfan anemia (DBA),                                 ,                                            ■    A    m

                                                                                      z               -                    ■    N   m

                                  m              ,          m                  ,               ,                           ■    V                                   ,

                                 ,                                          k                          -                   ■    M

                               m                              m   . I           ,                 ,                        ■    N    m               m

                                                              D   m      -B     k      A    m

               R                N       Am        .                                                                             I                                                                 DBA          . I

                    D   m      -B     k            m    (DBA)                             m                                                                        ,                 m                    m

                                      ,                    m         DBA                                                                                                 m        m                            m

                                                                                                                           DBA.  DBA  m                         m           mm                          -
               ■    B     k     -D   m                 m                                                                                      ,                                                          m

               ■    C                                                                                                         mm    .

               ■    C                                         m
                                                                                                                                T                                      z

                    C             , DBA                                                                                                              m   ,                                      k

                        m                                m                        m                                              m                    .  T                       m              m         m

                                        m           m                                                                                          m               ;                                        ;       k  -

               (  .  .,  F           ’         m   ).  DBA                           m                                                        m                                   ;                          m

                                                 m                                                -                                          ;       m

                           .                                                                                                                                                      m

                                                                                                                           m      k                              . I       m         m                  ,        -
               Pathophysiology                                                                                                                                                    . T


               DBA                               z                             m                                           m                  m          .

                         m   (IBMFS)                           m                              -                                 F           m                               (  %         %)

                       . C                m                               , RPS19,                                         m  m          “ ”                            . A

                                                  m                           D   m      -B     k                          DBA                                                                      m                 .

                    m   . T                                             DBA (                  .  )

                                          . RPS19                            m              m    -                         Treatm ent

                                 m                                 m         q           m                                 A       x m             %

                           DBA                            m                            . T                                            . T                       -    m                                 x m

               m  j                                             ,                      ,                -                      %,                  m                         q               -    m

                     m                                                                            .                               m     .

                                ,        DBA                                           m

                             m         S                 S          m                ,                                     Congenital Dyserythropoietic Anemia

                                       m                                           S          m  . I

                  k                ,      m           RNA                 m               ,                                F                                     dyserythropoietic anemia (CDA)

                                                                    m                    RNA ,                                                    . T                            z                                     -

                                                  . T                                                -                               m   ,                                        ,

                 S             -  S               m                 . T                                                    m                                      .                CDA      m

                x                                 m                                        m                               m        m                      m                m

                     m                            m             .                                                              k              . T        m

                    M                                                    m                                                                    .             (      m         mm                 CDA) CDA

                                                      m                                                                                                                              m      . T                 -

                                                                  m                           m                                            m                                           PNH

                       m         .  T                      m                                   DBA                                                            m                                          m
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